• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

A novel germline PAX5 single exon deletion in a pediatric patient with precursor B-cell leukemia.

作者信息

van Engelen N, Roest M, van Dijk F, Sonneveld E, Bladergroen R, van Reijmersdal S V, van der Velden V H J, Hoogeveen P G, Kors W A, Waanders E, Jongmans M C J, Kuiper R P

机构信息

Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.

Department of Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

出版信息

Leukemia. 2023 Sep;37(9):1908-1911. doi: 10.1038/s41375-023-01991-0. Epub 2023 Aug 5.

DOI:10.1038/s41375-023-01991-0
PMID:37543654
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10457179/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/373f/10457179/f8a8ba98b6de/41375_2023_1991_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/373f/10457179/c43bb3bc56d3/41375_2023_1991_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/373f/10457179/f8a8ba98b6de/41375_2023_1991_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/373f/10457179/c43bb3bc56d3/41375_2023_1991_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/373f/10457179/f8a8ba98b6de/41375_2023_1991_Fig2_HTML.jpg

相似文献

1
A novel germline PAX5 single exon deletion in a pediatric patient with precursor B-cell leukemia.一名患有前体B细胞白血病的儿科患者中一种新的种系PAX5单外显子缺失。
Leukemia. 2023 Sep;37(9):1908-1911. doi: 10.1038/s41375-023-01991-0. Epub 2023 Aug 5.
2
Germline PAX5 mutations and B cell leukemia.胚系 PAX5 突变与 B 细胞白血病。
Nat Genet. 2013 Oct;45(10):1104-5. doi: 10.1038/ng.2778.
3
Germline PAX5 mutation predisposes to familial B-cell precursor acute lymphoblastic leukemia.种系PAX5突变易患家族性B细胞前体急性淋巴细胞白血病。
Blood. 2021 Mar 11;137(10):1424-1428. doi: 10.1182/blood.2020005756.
4
PAX5-ESRRB is a recurrent fusion gene in B-cell precursor pediatric acute lymphoblastic leukemia.PAX5-ESRRB是儿童B细胞前体急性淋巴细胞白血病中的一种常见融合基因。
Haematologica. 2016 Jan;101(1):e20-3. doi: 10.3324/haematol.2015.132332. Epub 2015 Oct 22.
5
A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia.一种反复出现的 PAX5 种系突变可导致前 B 细胞急性淋巴细胞白血病易感性。
Nat Genet. 2013 Oct;45(10):1226-1231. doi: 10.1038/ng.2754. Epub 2013 Sep 8.
6
The correlation between Pax5 deletion and patients survival in Iranian children with precursor B-cell acute lymphocytic leukemia.伊朗前体B细胞急性淋巴细胞白血病患儿中Pax5缺失与患者生存之间的相关性。
Cell Mol Biol (Noisy-le-grand). 2017 Aug 30;63(8):19-22. doi: 10.14715/cmb/2017.63.8.4.
7
Characterization of PAX5 intragenic tandem multiplication in pediatric B-lymphoblastic leukemia by optical genome mapping.通过光学基因组图谱对儿童B淋巴细胞白血病中PAX5基因内串联重复的特征分析
Blood Adv. 2022 Jun 14;6(11):3343-3346. doi: 10.1182/bloodadvances.2021006328.
8
Impact of IKZF1 deletions and PAX5 amplifications in pediatric B-cell precursor ALL treated according to NOPHO protocols.根据北欧儿科血液学和肿瘤学会（NOPHO）方案治疗的儿童B细胞前体急性淋巴细胞白血病中IKZF1缺失和PAX5扩增的影响
Leukemia. 2013 Sep;27(9):1936-9. doi: 10.1038/leu.2013.92. Epub 2013 Mar 29.
9
Evaluation of PAX5 gene in the early stages of leukemic B cells in the childhood B cell acute lymphoblastic leukemia.评价 PAX5 基因在儿童 B 细胞急性淋巴细胞白血病白血病性 B 细胞早期阶段的作用。
Leuk Res. 2012 Jan;36(1):87-92. doi: 10.1016/j.leukres.2011.07.017. Epub 2011 Aug 2.
10
[Significance of PAX5 deletion in childhood B-lineage acute lymphoblastic leukemia without reproducible chromosomal abnormalities].[PAX5缺失在无重现性染色体异常的儿童B系急性淋巴细胞白血病中的意义]
Zhongguo Dang Dai Er Ke Za Zhi. 2016 Apr;18(4):287-91. doi: 10.7499/j.issn.1008-8830.2016.04.001.

引用本文的文献

1
Insights into germline predisposition to pediatric lymphoid malignancies.对儿童淋巴系统恶性肿瘤种系易感性的见解。
Leukemia. 2025 Sep 9. doi: 10.1038/s41375-025-02750-z.
2
PAX Family, Master Regulator in Cancer.PAX家族，癌症中的主调控因子。
Diagnostics (Basel). 2025 Jun 3;15(11):1420. doi: 10.3390/diagnostics15111420.
3
Trajectories from single-cells to PAX5-driven leukemia reveal PAX5-MYC interplay in vivo.从单细胞到PAX5驱动的白血病的轨迹揭示了PAX5与MYC在体内的相互作用。

本文引用的文献

1
The genomic landscape of pediatric acute lymphoblastic leukemia.儿科急性淋巴细胞白血病的基因组图谱。
Nat Genet. 2022 Sep;54(9):1376-1389. doi: 10.1038/s41588-022-01159-z. Epub 2022 Sep 1.
2
Clinical and immunophenotypic characteristics of familial leukemia predisposition caused by PAX5 germline variants.PAX5种系变异导致的家族性白血病易感性的临床和免疫表型特征
Leukemia. 2022 Sep;36(9):2338-2342. doi: 10.1038/s41375-022-01661-7. Epub 2022 Jul 28.
3
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency.
Leukemia. 2025 May 20. doi: 10.1038/s41375-025-02626-2.
4
Overt and covert genetic causes of pediatric acute lymphoblastic leukemia.儿童急性淋巴细胞白血病的显性和隐性遗传病因
Leukemia. 2025 May;39(5):1031-1045. doi: 10.1038/s41375-025-02535-4. Epub 2025 Mar 24.
5
Diverse mechanisms of leukemogenesis associated with PAX5 germline mutation.与PAX5种系突变相关的白血病发生的多种机制。
Leukemia. 2024 Nov;38(11):2479-2482. doi: 10.1038/s41375-024-02399-0. Epub 2024 Sep 10.
6
Case report: A familial B-acute lymphoblastic leukemia associated with a new germline pathogenic variant in . The first report in Mexico.病例报告：一例与新的种系致病变异相关的家族性B淋巴细胞白血病。墨西哥的首例报告。
Front Oncol. 2024 Mar 20;14:1355335. doi: 10.3389/fonc.2024.1355335. eCollection 2024.
PAX5 部分功能缺失相关的新型神经发育综合征的鉴定。
Hum Mutat. 2022 Apr;43(4):461-470. doi: 10.1002/humu.24332. Epub 2022 Jan 30.
4
Advances in germline predisposition to acute leukaemias and myeloid neoplasms.急性白血病和髓系肿瘤的种系易感性研究进展。
Nat Rev Cancer. 2021 Feb;21(2):122-137. doi: 10.1038/s41568-020-00315-z. Epub 2020 Dec 16.
5
Germline PAX5 mutation predisposes to familial B-cell precursor acute lymphoblastic leukemia.种系PAX5突变易患家族性B细胞前体急性淋巴细胞白血病。
Blood. 2021 Mar 11;137(10):1424-1428. doi: 10.1182/blood.2020005756.
6
PAX5-driven subtypes of B-progenitor acute lymphoblastic leukemia.PAX5 驱动的 B 系前体细胞急性淋巴细胞白血病亚型。
Nat Genet. 2019 Feb;51(2):296-307. doi: 10.1038/s41588-018-0315-5. Epub 2019 Jan 14.
7
Somatic and germline genomics in paediatric acute lymphoblastic leukaemia.儿科急性淋巴细胞白血病的体细胞和种系基因组学。
Nat Rev Clin Oncol. 2019 Apr;16(4):227-240. doi: 10.1038/s41571-018-0136-6.
8
One missense mutation in exon 2 of the PAX5 gene in Iran.伊朗PAX5基因第2外显子存在一个错义突变。
Genet Mol Res. 2015 Dec 22;14(4):17768-75. doi: 10.4238/2015.December.22.1.
9
Inherited susceptibility to pre B-ALL caused by germline transmission of PAX5 c.547G>A.由PAX5基因c.547G>A的种系传递导致的前体B细胞急性淋巴细胞白血病的遗传易感性。
Leukemia. 2014 May;28(5):1136-8. doi: 10.1038/leu.2013.363. Epub 2013 Nov 29.
10
A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia.一种反复出现的 PAX5 种系突变可导致前 B 细胞急性淋巴细胞白血病易感性。
Nat Genet. 2013 Oct;45(10):1226-1231. doi: 10.1038/ng.2754. Epub 2013 Sep 8.